Incidental Mutation 'R4005:Rnf19a'
| ID |
311448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf19a
|
| Ensembl Gene |
ENSMUSG00000022280 |
| Gene Name |
ring finger protein 19A |
| Synonyms |
XY body protein, Rnf19, Dorfin, XYbp |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R4005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36240080-36283293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36245774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 490
(D490E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022890]
[ENSMUST00000228358]
|
| AlphaFold |
P50636 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022890
AA Change: D490E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: D490E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
RING
|
132 |
179 |
5.56e-3 |
SMART |
|
IBR
|
199 |
264 |
1.5e-24 |
SMART |
|
IBR
|
283 |
347 |
1.87e-2 |
SMART |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228358
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
probably benign |
Het |
|
| Other mutations in Rnf19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rnf19a
|
APN |
15 |
36,265,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Cycle
|
UTSW |
15 |
36,253,450 (GRCm39) |
intron |
probably benign |
|
|
Tolkien
|
UTSW |
15 |
36,265,452 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Wagner
|
UTSW |
15 |
36,244,342 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0245:Rnf19a
|
UTSW |
15 |
36,253,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Rnf19a
|
UTSW |
15 |
36,253,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Rnf19a
|
UTSW |
15 |
36,244,247 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Rnf19a
|
UTSW |
15 |
36,265,801 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1710:Rnf19a
|
UTSW |
15 |
36,244,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Rnf19a
|
UTSW |
15 |
36,266,071 (GRCm39) |
missense |
probably benign |
|
|
R2005:Rnf19a
|
UTSW |
15 |
36,241,916 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2110:Rnf19a
|
UTSW |
15 |
36,254,665 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3118:Rnf19a
|
UTSW |
15 |
36,242,045 (GRCm39) |
nonsense |
probably null |
|
|
R3776:Rnf19a
|
UTSW |
15 |
36,266,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5184:Rnf19a
|
UTSW |
15 |
36,244,342 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5297:Rnf19a
|
UTSW |
15 |
36,247,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Rnf19a
|
UTSW |
15 |
36,242,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5647:Rnf19a
|
UTSW |
15 |
36,266,109 (GRCm39) |
start gained |
probably benign |
|
|
R6451:Rnf19a
|
UTSW |
15 |
36,253,205 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7003:Rnf19a
|
UTSW |
15 |
36,254,650 (GRCm39) |
nonsense |
probably null |
|
|
R7304:Rnf19a
|
UTSW |
15 |
36,254,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7893:Rnf19a
|
UTSW |
15 |
36,241,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8808:Rnf19a
|
UTSW |
15 |
36,242,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8864:Rnf19a
|
UTSW |
15 |
36,265,452 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8940:Rnf19a
|
UTSW |
15 |
36,260,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Rnf19a
|
UTSW |
15 |
36,265,615 (GRCm39) |
nonsense |
probably null |
|
|
R9093:Rnf19a
|
UTSW |
15 |
36,253,450 (GRCm39) |
intron |
probably benign |
|
|
R9135:Rnf19a
|
UTSW |
15 |
36,253,310 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9525:Rnf19a
|
UTSW |
15 |
36,247,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGACTGCCCGTGATACTAG -3'
(R):5'- ATTCCTACAACTTCTGGAATTAGCC -3'
Sequencing Primer
(F):5'- TGCCCGTGATACTAGCTCCAG -3'
(R):5'- AATGACATCTTCAATTTAAGGCCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation